P850L (p.Pro850Leu) variant of UBE3A (Ubiquitin-protein ligase E3A)
P850L (p.Pro850Leu) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Inborn genetic diseases; Neurodevelopmental disorder; Angelman syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
P850L (p.Pro850Leu) variant details
- p.Pro850Leu
- rs587781239
- ClinGen CA333384
- ClinVar RCV000144315
- ClinVar RCV002514772
- Pathogenic/Likely pathogenic
- Inborn genetic diseases; Neurodevelopmental disorder; Angelman syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 0.91
- MetaLR 0.93
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic/Likely pathogenic (Inborn genetic diseases; Neurodevelopmental disorder; Angelman s)
- EBI: Pathogenic (in AS)
- UniProt: Pathogenic (in AS)
- Structural context available
- Cited in: Mutation Update for UBE3A variants in Angelman syndrome. (PMID 25212744)
- Cited in: Mutation analysis of UBE3A in Angelman syndrome patients. (PMID 9585605)